+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
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+ Genes 4

Genes:
CHRD, FYCO1, LARS2, TRPC1,

+ Genes associated with diseases 2

Genes at Omim

FYCO1, LARS2,
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
LARS2 Perrault syndrome 4, 615300 (3)
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)

Genes at Clinical Genomics Database

FYCO1, LARS2,
FYCO1 Cataract, autosomal recessive congenital 2
LARS2 Perrault syndrome 4

Genes at HGMD

Summary

Number of Variants: 390
Number of Genes: 4

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 552217_ngs_ex annotated mendelmd 3 . 46459794 0.0 C CCTT PASS 1/1 47 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46579124 0.0 T C sbF 0/1 59 None None None None None None None None None LRRC2|0.033279848|68.04%
View 552217_ngs_ex annotated mendelmd 3 . 46673331 0.0 C G sbF 0/1 71 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46682061 0.0 G A sbF 1/1 87 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46902784 0.0 T C PASS 1/1 47 None None None None None None None None None MYL3|0.113509875|48.58%
View 552217_ngs_ex annotated mendelmd 3 . 47002048 0.0 C T PASS 1/1 130 None None None None None None None None None CCDC12|0.081899622|54.77%
View 552217_ngs_ex annotated mendelmd 3 . 47004249 0.0 C G PASS 1/1 57 None None None None None None None None None CCDC12|0.081899622|54.77%
View 552217_ngs_ex annotated mendelmd 3 . 47004356 0.0 C T PASS 0/1 25 None None None None None None None None None CCDC12|0.081899622|54.77%
View 552217_ngs_ex annotated mendelmd 3 . 49686764 0.0 T C PASS 0/1 119 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 49687375 0.0 T C PASS 1/1 115 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 49688595 0.0 T C PASS 0/1 64 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 349417 0.0 A G PASS 1/1 72 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 398280 0.0 A G sbF 1/1 82 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 398345 0.0 T C PASS 1/1 99 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 3034717 0.0 C T PASS 0/1 120 None None None None None None None None None CNTN4|0.758140284|6.9%
View 552217_ngs_ex annotated mendelmd 3 . 3034759 0.0 A G PASS 0/1 115 None None None None None None None None None CNTN4|0.758140284|6.9%
View 552217_ngs_ex annotated mendelmd 3 . 3040066 0.0 A T sbF 1/1 42 None None None None None None None None None CNTN4|0.758140284|6.9%
View 552217_ngs_ex annotated mendelmd 3 . 3040141 0.0 T C sbF 1/1 69 None None None None None None None None None CNTN4|0.758140284|6.9%
View 552217_ngs_ex annotated mendelmd 3 . 3174270 0.0 A G sbR 1/1 21 None None None None None None None None None TRNT1|0.028376176|70.26%
View 552217_ngs_ex annotated mendelmd 3 . 4362134 0.0 T C sbF 0/1 36 None None None None None None None None None SUMF1|0.2711895|29.81%
View 552217_ngs_ex annotated mendelmd 3 . 4362153 0.0 A G sbF 0/1 42 None None None None None None None None None SUMF1|0.2711895|29.81%
View 552217_ngs_ex annotated mendelmd 3 . 4467058 0.0 C T sbF 0/1 92 None None None None None None None None None SUMF1|0.2711895|29.81%
View 552217_ngs_ex annotated mendelmd 3 . 4675127 0.0 A C PASS 0/1 35 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 4725578 0.0 T C PASS 0/1 41 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 4775373 0.0 T C PASS 1/1 22 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 4788048 0.0 A G PASS 1/1 42 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 49688637 0.0 G A PASS 0/1 96 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 4800547 0.0 C T PASS 0/1 103 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 4814496 0.0 T C sbF 1/1 45 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 4814550 0.0 G A PASS 1/1 20 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 6861610 0.0 C T PASS 0/1 106 None None None None None None None None None GRM7|0.691014727|8.74%
View 552217_ngs_ex annotated mendelmd 3 . 6861914 0.0 A G PASS 1/1 78 None None None None None None None None None GRM7|0.691014727|8.74%
View 552217_ngs_ex annotated mendelmd 3 . 7452730 0.0 A T PASS 1/1 90 None None None None None None None None None GRM7|0.691014727|8.74%
View 552217_ngs_ex annotated mendelmd 3 . 8733975 0.0 C T sbF 1/1 46 None None None None None None None None None SSUH2|0.023073982|72.66%
View 552217_ngs_ex annotated mendelmd 3 . 8768017 0.0 G A PASS 1/1 27 None None None None None None None None None SSUH2|0.023073982|72.66%
View 552217_ngs_ex annotated mendelmd 3 . 9757089 0.0 C G sbF 0/1 94 None None None None None None None None None CPNE9|0.187171209|38.17%
View 552217_ngs_ex annotated mendelmd 3 . 9757089 0.0 C G sbF 0/1 94 None None None None None None None None None CPNE9|0.187171209|38.17%
View 552217_ngs_ex annotated mendelmd 3 . 10844235 0.0 T C sbF 0/1 56 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 10926053 0.0 T C PASS 0/1 60 None None None None None None None None None SLC6A11|0.246455014|31.89%
View 552217_ngs_ex annotated mendelmd 3 . 10935190 0.0 A G PASS 0/1 98 None None None None None None None None None SLC6A11|0.246455014|31.89%
View 552217_ngs_ex annotated mendelmd 3 . 11028856 0.0 G GCC PASS 0/1 36 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 11554828 0.0 T C PASS 0/1 102 None None None None None None None None None ATG7|0.493408428|16.17%
View 552217_ngs_ex annotated mendelmd 3 . 12529921 0.0 GT G sbF 0/1 17 None None None None None None None None None TSEN2|0.005330655|85.38%
View 552217_ngs_ex annotated mendelmd 3 . 14145323 0.0 T C PASS 0/1 52 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 14145330 0.0 A T PASS 0/1 52 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 14145845 0.0 G C PASS 0/1 21 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 14145949 0.0 G T sbF 0/1 48 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 14148737 0.0 T G PASS 0/1 71 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 14156487 0.0 A T PASS 1/1 93 None None None None None None None None None CHCHD4|0.084943426|54.21%
View 552217_ngs_ex annotated mendelmd 3 . 14158042 0.0 A G sbF 0/1 44 None None None None None None None None None CHCHD4|0.084943426|54.21%
View 552217_ngs_ex annotated mendelmd 3 . 16592157 0.0 C T PASS 0/1 44 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 33014196 0.0 T C PASS 0/1 58 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 33014229 0.0 A G PASS 1/1 38 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 33021558 0.0 A G PASS 0/1 57 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 33097052 0.0 A G PASS 1/1 29 None None None None None None None None None GLB1|0.136925779|44.88%
View 552217_ngs_ex annotated mendelmd 3 . 33097057 0.0 G A PASS 1/1 27 None None None None None None None None None GLB1|0.136925779|44.88%
View 552217_ngs_ex annotated mendelmd 3 . 37012077 0.0 A G PASS 0/1 29 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 37494493 0.0 C G sbF 1/1 51 None None None None None None None None None ITGA9|0.291839002|28.24%
View 552217_ngs_ex annotated mendelmd 3 . 37533460 0.0 G A PASS 1/1 51 None None None None None None None None None ITGA9|0.291839002|28.24%
View 552217_ngs_ex annotated mendelmd 3 . 38308988 0.0 T C sbF 1/1 89 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 . 38309028 0.0 G A PASS 1/1 122 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 rs916403634
dbSNP Clinvar 		38309052 0.0 A G PASS 1/1 140 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 rs1049201485
dbSNP Clinvar 		38313734 0.0 G A sbF 0/1 138 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 . 38315576 0.0 T C sbF 0/1 130 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 . 38316326 0.0 C T sbF 0/1 90 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 . 38477933 0.0 A G PASS 0/1 37 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38483251 0.0 C T sbF 0/1 52 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38550915 0.0 A G sbF 0/1 56 None None None None None None None None None EXOG|0.037321257|66.68%
View 552217_ngs_ex annotated mendelmd 3 . 38560174 0.0 C T PASS 0/1 41 None None None None None None None None None EXOG|0.037321257|66.68%
View 552217_ngs_ex annotated mendelmd 3 . 38633221 0.0 T C PASS 0/1 123 None None None None None None None None None SCN5A|0.505326843|15.55%
View 552217_ngs_ex annotated mendelmd 3 . 38698083 0.0 T C PASS 1/1 34 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38698354 0.0 A G PASS 1/1 25 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38722372 0.0 G C PASS 0/1 93 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38723507 0.0 A G PASS 0/1 87 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38725184 0.0 A G PASS 0/1 130 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38726756 0.0 G A PASS 0/1 66 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38726809 0.0 T C PASS 0/1 74 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38742538 0.0 T C PASS 0/1 71 None None None None None None None None None SCN10A|0.216199938|34.89%
View 552217_ngs_ex annotated mendelmd 3 . 38752498 0.0 G A PASS 0/1 71 None None None None None None None None None SCN10A|0.216199938|34.89%
View 552217_ngs_ex annotated mendelmd 3 . 38756680 0.0 C T sbF 0/1 74 None None None None None None None None None SCN10A|0.216199938|34.89%
View 552217_ngs_ex annotated mendelmd 3 . 39265671 0.0 G A PASS 0/1 55 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 49896626 0.0 G A PASS 0/1 107 None None None None None None None None None CAMKV|0.274599401|29.55%
View 552217_ngs_ex annotated mendelmd 3 . 39265765 0.0 C T PASS 0/1 53 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 42263639 0.0 C G PASS 1/1 74 None None None None None None None None None TRAK1|0.190086585|37.8%
View 552217_ngs_ex annotated mendelmd 3 . 43080067 0.0 C T PASS 1/1 25 None None None None None None None None None FAM198A|0.022008467|73.15%
View 552217_ngs_ex annotated mendelmd 3 . 43372826 0.0 A G sbF 1/1 49 None None None None None None None None None SNRK|0.096657733|51.77%
View 552217_ngs_ex annotated mendelmd 3 . 43549835 0.0 G A PASS 1/1 18 None None None None None None None None None ANO10|0.098739999|51.41%
View 552217_ngs_ex annotated mendelmd 3 . 43576788 0.0 T C sbF 1/1 39 None None None None None None None None None ANO10|0.098739999|51.41%
View 552217_ngs_ex annotated mendelmd 3 . 45485726 0.0 T C sbF 1/1 24 None None None None None None None None None LARS2|0.092014629|52.81%
View 552217_ngs_ex annotated mendelmd 3 . 45491732 0.0 G A PASS 1/1 92 None None None None None None None None None LARS2|0.092014629|52.81%
View 552217_ngs_ex annotated mendelmd 3 . 45524062 0.0 A G PASS 1/1 58 None None None None None None None None None LARS2|0.092014629|52.81%
View 552217_ngs_ex annotated mendelmd 3 . 45772501 0.0 G A sbF 0/1 61 None None None None None None None None None SACM1L|0.548332885|13.81%
View 552217_ngs_ex annotated mendelmd 3 . 45775926 0.0 A G PASS 1/1 128 None None None None None None None None None SACM1L|0.548332885|13.81%
View 552217_ngs_ex annotated mendelmd 3 . 45955269 0.0 G A sbF 1/1 63 None None None None None None None None None LZTFL1|0.104893226|50.25%
View 552217_ngs_ex annotated mendelmd 3 . 45966331 0.0 G T sbF 0/1 17 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45966333 0.0 T C sbF 0/1 17 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45966595 0.0 G A sbF 0/1 115 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45967298 0.0 G A PASS 0/1 81 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45967995 0.0 G A PASS 0/1 133 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45968372 0.0 C G PASS 1/1 73 None None None None None None None None None FYCO1|0.053934949|61.49%